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dbVar

Database of genomic structural variation

nsv4834301

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:22,640

Publication(s):Abel et al. 2020

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 458 SVs from 62 studies. See in: genome view

Remapped(Score: Pass):112,160,234-112,182,875

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4834301	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	112,160,235 (-1)	112,182,874 (-1, +1)
nsv4834301	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	112,814,549 (-1)	112,851,561 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16388037	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16388037	Remapped	Pass	NC_000013.11:g.(11 2160234_?)_(112182 873_112182875)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	112,160,235 (-1)	112,182,874 (-1, +1)
nssv16388037	Submitted genomic		NC_000013.10:g.(11 2814548_?)_(112851 560_112851562)dup	GRCh37 (hg19)		NC_000013.10	Chr13	112,814,549 (-1)	112,851,561 (-1, +1)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16388037	<0.001	1	16834

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